共 86 条
Non-HFE haemochromatosis
被引:63
作者:

Wallace, Daniel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Queensland Inst Med Res, Membrane Transport Lab, Brisbane, Qld 4006, Australia Queensland Inst Med Res, Membrane Transport Lab, Brisbane, Qld 4006, Australia

Subramaniam, V. Nathan
论文数: 0 引用数: 0
h-index: 0
机构:
Queensland Inst Med Res, Membrane Transport Lab, Brisbane, Qld 4006, Australia Queensland Inst Med Res, Membrane Transport Lab, Brisbane, Qld 4006, Australia
机构:
[1] Queensland Inst Med Res, Membrane Transport Lab, Brisbane, Qld 4006, Australia
关键词:
haemochromatosis;
iron overload;
non-HFE;
juvenile haernochromatosis;
hemojuvelin;
hepcidin;
transferrin receptor 2;
ferroportin;
D O I:
10.3748/wjg.v13.i35.4690
中图分类号:
R57 [消化系及腹部疾病];
学科分类号:
摘要:
Non-HFE hereditary haemochromatosis (HH) refers to a genetically heterogeneous group of iron overload disorders that are unlinked to mutations in the HFE gene. The four main types of non-HFE HH are caused by mutations in the hemojuvelin, hepcidin,, transferrin receptor 2 and ferroportin genes. Juvenile haemochromatosis is an autosomal recessive disorder and can be caused by mutations in either hemojuvelin or hepcidin. An adult onset form of HH similar to HFE-HH is caused by homozygosity for mutations in transferrin receptor 2. The autosomal dominant iron overload disorder ferroportin disease is caused by mutations in the iron exporter ferroportin. The clinical characteristics and molecular basis of the various types of non-HFE haemochromatosis are reviewed. The study of these disorders and the molecules involved has been invaluable in improving our understanding of the mechanisms involved in the regulation of iron metabolism. (C) 2007 WIG. All rights reserved.
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页码:4690 / 4698
页数:9
相关论文
共 86 条
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